Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

MedGen UID:: 1654873
•Concept ID:: C4751169
•: Disease or Syndrome

Synonyms:	Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome; leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
SNOMED CT:	Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome (773700005)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0016213
Orphanet:	ORPHA210133

Definition

A rare syndromic nail anomaly disorder with characteristics of the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with longitudinal furrows on electronic microscopy. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLeukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Abnormal skin morphology
      - Abnormality of skin pigmentation
        Hyperpigmentation of the skin
        Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

Recent clinical studies

Etiology

Mucocutaneous Manifestations in Children with Thalassemia: An Observational Study.

Kumar A, Jabeen M, Sharma P
Skinmed 2023;21(2):84-88. Epub 2023 May 9 PMID: 37158344

See all (1)

Diagnosis

Mucocutaneous Manifestations in Children with Thalassemia: An Observational Study.

Kumar A, Jabeen M, Sharma P
Skinmed 2023;21(2):84-88. Epub 2023 May 9 PMID: 37158344

Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome?

Rodríguez-Lojo R, Del Pozo J, Sacristán F, Barja J, Piñeyro-Molina F, Pérez-Varela L
Eur J Dermatol 2011 Jul-Aug;21(4):484-6. doi: 10.1684/ejd.2011.1369. PMID: 21659070

See all (2)

Clinical prediction guides

Mucocutaneous Manifestations in Children with Thalassemia: An Observational Study.

Kumar A, Jabeen M, Sharma P
Skinmed 2023;21(2):84-88. Epub 2023 May 9 PMID: 37158344

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.

Wang H, Cao X, Lin Z, Lee M, Jia X, Ren Y, Dai L, Guan L, Zhang J, Lin X, Zhang J, Chen Q, Feng C, Zhou EY, Yin J, Xu G, Yang Y
Hum Mol Genet 2015 Jan 1;24(1):243-50. Epub 2014 Aug 28 doi: 10.1093/hmg/ddu442. PMID: 25168385

Hereditary leukonychia totalis, acanthosis-nigricans-like lesions and hair dysplasia: a new syndrome?

Le Corre Y, Steff M, Croue A, Filmon R, Verret JL, Le Clech C
Eur J Med Genet 2009 Jul-Aug;52(4):229-33. Epub 2009 May 4 doi: 10.1016/j.ejmg.2009.04.003. PMID: 19401242

See all (3)

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Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

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